Canonical Allele Identifier: CA339035826

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848658-G-A
• MyVariant Identifiers: chr1:g.24175148G>A (hg19) ; chr1:g.23848658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848658G>A , CM000663.2:g.23848658G>A	GRCh38
NC_000001.10:g.24175148G>A , CM000663.1:g.24175148G>A	GRCh37
NC_000001.9:g.24047735G>A	NCBI36
NG_013346.1:g.24712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1151C>T MANE Select	ENSP00000363603.3:p.Thr384Ile
ENST00000374479.3:c.1151C>T	ENSP00000363603.3:p.Thr384Ile
NM_000147.4:c.1151C>T	NP_000138.2:p.Thr384Ile
XM_005245821.1:c.776C>T	XP_005245878.1:p.Thr259Ile
XM_011541167.1:c.518C>T	XP_011539469.1:p.Thr173Ile
XM_005245821.3:c.776C>T	XP_005245878.1:p.Thr259Ile
XM_011541167.3:c.518C>T	XP_011539469.1:p.Thr173Ile
XM_017000905.2:c.848C>T	XP_016856394.1:p.Thr283Ile
NM_000147.5:c.1151C>T MANE Select	NP_000138.2:p.Thr384Ile
NR_174379.1:n.1329C>T
NR_174380.1:n.1378C>T
NR_174381.1:n.1217C>T
NR_174382.1:n.1614C>T